Linked Data
ClinVar Variation Id:
370858
ClinVar RCV Id:
RCV000410415
dbSNP Id:
rs1057516819
gnomAD v4:
11-2166001-C-T
COSMIC:
COSM6355101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166001C>T , CM000673.2:g.2166001C>T | GRCh38 |
| NC_000011.9:g.2187231C>T , CM000673.1:g.2187231C>T | GRCh37 |
| NC_000011.8:g.2143807C>T | NCBI36 |
| NG_007114.1:g.194G>A | |
| NG_008128.1:g.10805G>A | |
| NG_050578.1:g.209G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.1104+1G>A MANE Select | ENSP00000325951.4:n.1104+1G>A | |
| ENST00000324155.8:c.*793+1G>A | ENSP00000325831.3:n.*793+1G>A | |
| ENST00000333684.9:c.822+1G>A | ENSP00000328814.6:n.822+1G>A | |
| ENST00000352909.7:c.1104+1G>A | ENSP00000325951.3:n.1104+1G>A | |
| ENST00000381175.5:c.1185+1G>A | ENSP00000370567.1:n.1185+1G>A | |
| ENST00000381178.5:c.1197+1G>A | ENSP00000370571.1:n.1197+1G>A | |
| ENST00000412076.1:c.262+1G>A | ||
| ENST00000416223.5:c.398+1G>A | ||
| ENST00000461172.1:n.691G>A | ||
| ENST00000479437.5:n.653+1G>A | ||
| NM_000360.3:c.1104+1G>A | NP_000351.2:n.1104+1G>A | |
| NM_199292.2:c.1197+1G>A | NP_954986.2:n.1197+1G>A | |
| NM_199293.2:c.1185+1G>A | NP_954987.2:n.1185+1G>A | |
| XM_011520335.1:c.1116+1G>A | XP_011518637.1:n.1116+1G>A | |
| XM_011520335.2:c.1116+1G>A | XP_011518637.1:n.1116+1G>A | |
| NM_000360.4:c.1104+1G>A MANE Select | NP_000351.2:n.1104+1G>A | |
| NM_199292.3:c.1197+1G>A | NP_954986.2:n.1197+1G>A | |
| NM_199293.3:c.1185+1G>A | NP_954987.2:n.1185+1G>A |